Mutation analysis in Turkish phenylketonuria patients.

AUTOR(ES)

Ozgüç, M

RESUMO

Forty-four classical PKU patients have been screened for various mutations. The newly identified IVS 10 splicing mutation was found in 32% of the mutant alleles and comprises 74.5% of the mutations that could be typed: 261arg-gln (6.8%), 158arg-gly (2.3%), 252arg-trp (1.1%), 280glu-lys (-), and 272gly-stop (-) were the other mutations that were screened.

Documentos Relacionados

• Mutation analysis in 600 French cystic fibrosis patients.
• Rapid and efficient PCR/StyI test for identification of common mutation R408W in phenylketonuria patients.
• BRCA1 and BRCA2 mutation analysis in 86 early onset breast/ovarian cancer patients.
• HLA antigens in Behçet's disease: a reappraisal by a comparative study of Turkish and British patients.
• Molecular analysis of 11 galactosemia patients.